gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66752882 (EAS)
Genomes Max Group AF
0.66752882 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31059582T>C , CM000680.2:g.31059582T>C | GRCh38 |
| NC_000018.9:g.28639548T>C , CM000680.1:g.28639548T>C | GRCh37 |
| NC_000018.8:g.26893546T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251081.8:c.*8641A>G | ENSP00000251081.6:n.*8641A>G | |
| ENST00000280904.11:c.*8433A>G MANE Select | ENSP00000280904.6:n.*8433A>G | |
| ENST00000280904.10:c.*8433A>G | ENSP00000280904.6:n.*8433A>G | |
| NM_004949.5:c.*8641A>G | NP_004940.1:n.*8641A>G | |
| NM_024422.6:c.*8433A>G MANE Select | NP_077740.1:n.*8433A>G |